Article
A novel heterozygous HTRA1 mutation is associated with autosomal dominant hereditary cerebral small vessel disease.
Molecular genetics & genomic medicine - 1 Jun 2020
Zhuo Zhong-Ling, Cong Lu, Zhang Jun, Zhao Xiao-Tao
Abstract excerpt
BACKGROUND: We investigated whether a heterozygous mutation that we newly identified in HTRA1 (high-temperature requirement serine protease A1 gene) in a pedigree with autosomal dominant hereditary cerebral small vessel disease (SVD) reduces the function of HTRA1 and affects the transforming growth factor-β1 (TGF-β1)/Smad signaling. METHODS: Whole-exome sequence from the proband and her two sisters was examined...
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